Found: 17
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Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.
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- American Journal of Respiratory Cell & Molecular Biology, 2021, v. 65, n. 2, p. 157, doi. 10.1165/rcmb.2020-0257OC
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- Article
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
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- American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 10, p. 1324, doi. 10.1164/rccm.202209-1653OC
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- Article
Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.
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- PLoS Pathogens, 2017, v. 13, n. 11, p. 1, doi. 10.1371/journal.ppat.1006703
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- Article
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1602
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- Article
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
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- Nature Genetics, 2010, v. 42, n. 9, p. 790, doi. 10.1038/ng.646
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- Article
Exome sequencing identifies the cause of a mendelian disorder.
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- Nature Genetics, 2010, v. 42, n. 1, p. 30, doi. 10.1038/ng.499
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- Article
Host Genetic Risk Factors for West Nile Virus Infection and Disease Progression.
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- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024745
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- Article
RELATIVE ABUNDANCE AND THE SPECIES-SPECIFIC REINFORCEMENT OF MALE MATING PREFERENCE IN THE CHRYSOCHUS (COLEOPTERA: CHRYSOMELIDAE) HYBRID ZONE.
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- Evolution, 2005, v. 59, n. 12, p. 2639, doi. 10.1554/05-120.1
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- Article
Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 993, doi. 10.1002/jimd.12091
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- Article
Spectrum of MLL2 ( ALR) mutations in 110 cases of Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1511, doi. 10.1002/ajmg.a.34074
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- Article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
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- Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983
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- Article
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
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- Human Mutation, 2015, v. 36, n. 11, p. 1048, doi. 10.1002/humu.22856
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- Article
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2906, doi. 10.1002/ajmg.a.38412
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- Article
SRD5A3-CDG: Expanding the Phenotype of a Congenital Disorder of Glycosylation with Emphasis on Adult Onset Features.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3165, doi. 10.1002/ajmg.a.37875
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- Article
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1483, doi. 10.1002/ajmg.a.37026
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- Article
Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.
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- 2019
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- Correction Notice
Toll-like Receptor Polymorphism Associations With HIV-1 Outcomes Among Sub-Saharan Africans.
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- Journal of Infectious Diseases, 2014, v. 209, n. 10, p. 1623, doi. 10.1093/infdis/jit807
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- Article